Meiotic arrest at first spermatocyte level: a new inherited infertility disorder.
Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizing(LH) and normal to elevated follicle-stimulating (FSH) hormones, positive gonadotropin pituitary response to luteinizing hormone-releasing hormone, depletion of LH and FSH levels by exogenous testosterone (T) administration, normal levels of T and dihydrotestosterone hormones, and elevation of T after stimulation with human chorionic gonadotropin hormone. Electrophoretic assay of lactic dehydrogenase isozymes did not reveal band C4 in semen or testicular tissue. These traits seem to constitute a hitherto undescribed form of infertility in which spermatogenesis arrest at the first spermatocyte level is the main feature. The parental consanguinity suggests autosomal recessive inheritance.
D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D013196:Dihydrotestosterone / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D005808:Genes, Recessive; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008540:Meiosis; D010375:Pedigree; D013090:Spermatocytes / Q000166:cytology*; D013091:Spermatogenesis; D013094:Spermatozoa / Q000166:cytology*; D013737:Testis / Q000648:ultrastructure; D013739:Testosterone / Q000097:blood
D013196:Dihydrotestosterone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone